RESUMEN

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

Asunto(s)

Oído Interno/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Pérdida Auditiva Conductiva/genética , Pérdida Auditiva Sensorineural/genética , Factores del Dominio POU/genética , Niño , Femenino , Pruebas Auditivas , Humanos , Imagen por Resonancia Magnética , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Siberia , Tomografía Computarizada por Rayos X